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Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay.

Benzimra J, Derhy S, Rosmorduc O, Menu Y, Poupon R, Arrivé L - Insights Imaging (2013)

Bottom Line: Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities.The main feature is the presence of intrahepatic lithiasis.Other uncommon presentations have been described, such as uni- or multifocal spindle-shaped dilatations of the intrahepatic bile ducts filled with gallstones, secondary sclerosing cholangitis, biliary cirrhosis, and intrahepatic cholangiocarcinoma.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, AP-HP Saint-Antoine Hospital, Université Pierre et Marie Curie, 184, rue du Faubourg Saint-Antoine, 75571, Paris cedex 12, France.

ABSTRACT

Background: ABCB4/MDR3 gene variants are mostly associated with a peculiar form of cholelithiasis in European adults, currently referred to as low phospholipid-associated cholelithiasis (LPAC) syndrome.

Methods: LPAC syndrome is a rare genetic disorder, characterised by the following clinical features: biliary symptoms before the age of 40, recurrence of the symptoms after cholecystectomy, and intrahepatic microlithiasis or intrahepatic hyperechogenic foci.

Results: Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities. The main feature is the presence of intrahepatic lithiasis. Other uncommon presentations have been described, such as uni- or multifocal spindle-shaped dilatations of the intrahepatic bile ducts filled with gallstones, secondary sclerosing cholangitis, biliary cirrhosis, and intrahepatic cholangiocarcinoma.

Conclusion: This review focuses on MR features related to ABCB4/MDR3 mutations.

Main messages: • LPAC syndrome is characterised by intrahepatic microlithiasis or intrahepatic hyperechogenic foci. • Ultrasound examination is very accurate in detecting intrahepatic stones. • At MR imaging, LPAC syndrome is associated with various presentations.

No MeSH data available.


Related in: MedlinePlus

Severe LPAC syndrome with secondary intrahepatic cholangiocarcinoma formation in a 55-year-old woman. Maximum intensity projection coronal MRCP (a), and transverse T2-weighted acquisition show right biliary irregularities and dilated left bile ducts filled with several small intrahepatic stones (white arrow in b). Two years later, T1-weighted transverse acquisitions with fat saturation after gadolinium chelate injection obtained at portal phase (c) and transverse T2-weighted acquisition (d) show an intrahepatic large mass with irregular contrast enhancement (white star). Liver biopsy confirmed the diagnosis of intrahepatic cholangiocarcioma
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Fig10: Severe LPAC syndrome with secondary intrahepatic cholangiocarcinoma formation in a 55-year-old woman. Maximum intensity projection coronal MRCP (a), and transverse T2-weighted acquisition show right biliary irregularities and dilated left bile ducts filled with several small intrahepatic stones (white arrow in b). Two years later, T1-weighted transverse acquisitions with fat saturation after gadolinium chelate injection obtained at portal phase (c) and transverse T2-weighted acquisition (d) show an intrahepatic large mass with irregular contrast enhancement (white star). Liver biopsy confirmed the diagnosis of intrahepatic cholangiocarcioma

Mentions: All complications associated with chronic cholangitis and/or cholelithiasis have been described in patients with LPAC syndrome: intrahepatic cholangiocarcinoma (IHCC) (Fig. 10), portal hypertension, cholangitis and abscess formation (Fig 11), hepatic fibrosis or cirrhosis. IHCC is a rare primary liver tumour (10-20 %) [31, 32]. Several risk factors have been identified and differ in western and Asian populations: primary sclerosing cholangitis, congenital biliary abnormalities and hepatolithiasis [32]. In most cases, no underlying risk factor is found. Recently, Tougeron et al. [9] reported two cases of IHCC in different and unrelated families with MDR3 deficiency. In both cases, no argument supporting the direct relation between ABCB4 mutations and tumorigenesis was found and IHCC may be considered as a consequence of the chronic biliary abnormalities. Genetic polymorphisms in biliary transporters genes have been studied but, to date, no relation has been established between IHCC and ABCB4 mutations [4].Fig. 10


Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay.

Benzimra J, Derhy S, Rosmorduc O, Menu Y, Poupon R, Arrivé L - Insights Imaging (2013)

Severe LPAC syndrome with secondary intrahepatic cholangiocarcinoma formation in a 55-year-old woman. Maximum intensity projection coronal MRCP (a), and transverse T2-weighted acquisition show right biliary irregularities and dilated left bile ducts filled with several small intrahepatic stones (white arrow in b). Two years later, T1-weighted transverse acquisitions with fat saturation after gadolinium chelate injection obtained at portal phase (c) and transverse T2-weighted acquisition (d) show an intrahepatic large mass with irregular contrast enhancement (white star). Liver biopsy confirmed the diagnosis of intrahepatic cholangiocarcioma
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3675252&req=5

Fig10: Severe LPAC syndrome with secondary intrahepatic cholangiocarcinoma formation in a 55-year-old woman. Maximum intensity projection coronal MRCP (a), and transverse T2-weighted acquisition show right biliary irregularities and dilated left bile ducts filled with several small intrahepatic stones (white arrow in b). Two years later, T1-weighted transverse acquisitions with fat saturation after gadolinium chelate injection obtained at portal phase (c) and transverse T2-weighted acquisition (d) show an intrahepatic large mass with irregular contrast enhancement (white star). Liver biopsy confirmed the diagnosis of intrahepatic cholangiocarcioma
Mentions: All complications associated with chronic cholangitis and/or cholelithiasis have been described in patients with LPAC syndrome: intrahepatic cholangiocarcinoma (IHCC) (Fig. 10), portal hypertension, cholangitis and abscess formation (Fig 11), hepatic fibrosis or cirrhosis. IHCC is a rare primary liver tumour (10-20 %) [31, 32]. Several risk factors have been identified and differ in western and Asian populations: primary sclerosing cholangitis, congenital biliary abnormalities and hepatolithiasis [32]. In most cases, no underlying risk factor is found. Recently, Tougeron et al. [9] reported two cases of IHCC in different and unrelated families with MDR3 deficiency. In both cases, no argument supporting the direct relation between ABCB4 mutations and tumorigenesis was found and IHCC may be considered as a consequence of the chronic biliary abnormalities. Genetic polymorphisms in biliary transporters genes have been studied but, to date, no relation has been established between IHCC and ABCB4 mutations [4].Fig. 10

Bottom Line: Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities.The main feature is the presence of intrahepatic lithiasis.Other uncommon presentations have been described, such as uni- or multifocal spindle-shaped dilatations of the intrahepatic bile ducts filled with gallstones, secondary sclerosing cholangitis, biliary cirrhosis, and intrahepatic cholangiocarcinoma.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiology, AP-HP Saint-Antoine Hospital, Université Pierre et Marie Curie, 184, rue du Faubourg Saint-Antoine, 75571, Paris cedex 12, France.

ABSTRACT

Background: ABCB4/MDR3 gene variants are mostly associated with a peculiar form of cholelithiasis in European adults, currently referred to as low phospholipid-associated cholelithiasis (LPAC) syndrome.

Methods: LPAC syndrome is a rare genetic disorder, characterised by the following clinical features: biliary symptoms before the age of 40, recurrence of the symptoms after cholecystectomy, and intrahepatic microlithiasis or intrahepatic hyperechogenic foci.

Results: Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities. The main feature is the presence of intrahepatic lithiasis. Other uncommon presentations have been described, such as uni- or multifocal spindle-shaped dilatations of the intrahepatic bile ducts filled with gallstones, secondary sclerosing cholangitis, biliary cirrhosis, and intrahepatic cholangiocarcinoma.

Conclusion: This review focuses on MR features related to ABCB4/MDR3 mutations.

Main messages: • LPAC syndrome is characterised by intrahepatic microlithiasis or intrahepatic hyperechogenic foci. • Ultrasound examination is very accurate in detecting intrahepatic stones. • At MR imaging, LPAC syndrome is associated with various presentations.

No MeSH data available.


Related in: MedlinePlus